Introduction: Dyskeratosis congenita is a rare multisystemic disease characterised with atrophy on skin, pigmentation, nail dystrophy, leukoplakia in mucous membrane, bone marrow failure, and tendency to malignancy. We present a rare case of dyskeratosis congenita associated with hypothyroidism and hypogonadism.
Case: A 30-year-old male patient was referred to Endocrinology Department with the findings of micropenis and atrophic testicles. His parents had cousin marriage. Physical examination results: BP: 130/80 mmHg, height: 172 cm, weight: 83 kg, and BMI: 28 kg/m2. There were hypopigmented skin lesions in the whole body. The skin was dry and the nails were dystrophic. His axillary and pubic hair was normal but facial hair was scarce. He had alopecia in 1/3 of outer eyebrow (Omnibus sign) and saddle nose. Micropenis and testicles were found to be atrophic. The laboratory findings: WBC: 3140/mm3, neutrophil: 1740/mm3, Hb: 12.5 g/dl, plt: 187 000/mm3, free testosterone: 1.4 pg/ml, total testosterone: 0.70 ng/ml, FSH: 77.28 mIU/l, LH: 15.38 mIU/l, E2: <20 pg/ml, prolactin: 6.77 ng/ml, DHEAS: 222.1 μg/dl, free T3: 3.35 pg/ml, free T4: 0.98 ng/dl, TSH: 10.88 mIU/l, anti-TG: 203 IU/ml, ACTH: 24.1 pg/ml, and cortisol: 13.34 μg/dl. Hypergonadotropic hypogonadism was suspected as testosterone was low and FSH and LH were high. Hyperkeratosis keratoderma was found in skin biopsy. In the biopsy of lymph node from right cervical, we found disseminated histiocytic proliferation that changes the normal appearance of lymph node and granulomas that are characterised with rare giant cell formation and that dont include necrosis.
Conclusion: Dyskeratosis congenita is a rare disease showing X-linked recessive inheritance along with autosomal dominant and recessive forms. Although the pathogenesis of the disease is still unknown, DKC1 gene localised to Xq28 is thought to be responsible for the X-linked dyskeratosis congenita. Our patient is still genetically studied. In this syndrome, the association of hypothyroidism and hypogonadism should be kept in mind.
16 - 20 May 2015
European Society of Endocrinology